Variant report

Variant	esv3350928
Chromosome Location	chr12:51487581-51487788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51484035..51486422-chr12:51486833..51488800,2	MCF-7	breast:
2	chr12:51474025..51479149-chr12:51485745..51494502,15	MCF-7	breast:
3	chr12:51483401..51485613-chr12:51487391..51490176,3	K562	blood:

Variant related genes	Relation type
ENSG00000110925	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556385974	chr12:51487611-51487612	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs139118081	chr12:51487617-51487618	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs74689767	chr12:51487620-51487621	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs398116445	chr12:51487630-51487631	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs34059685	chr12:51487632-51487633	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs199809425	chr12:51487641-51487642	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs564689893	chr12:51487642-51487643	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs576564276	chr12:51487701-51487702	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs59057776	chr12:51487716-51487717	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs181047041	chr12:51487748-51487749	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs58309379	chr12:51487751-51487752	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs202194838	chr12:51487766-51487767	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs145381387	chr12:51487768-51487769	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs12578749	chr12:51487769-51487770	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
15	rs201968128	chr12:51487770-51487771	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs11550089	chr12:51487774-51487775	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs149396253	chr12:51487775-51487776	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Breast cancer	21858162	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51477400-51488200	Weak transcription	Spleen	Spleen
2	chr12:51477400-51488800	Weak transcription	Gastric	stomach
3	chr12:51477400-51490000	Weak transcription	Small Intestine	intestine
4	chr12:51477400-51518200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:51477600-51487800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:51477800-51487600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:51477800-51487600	Weak transcription	Primary T cells from cord blood	blood
8	chr12:51477800-51487600	Weak transcription	Adipose Nuclei	Adipose
9	chr12:51477800-51487600	Weak transcription	Brain Substantia Nigra	brain
10	chr12:51477800-51487600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:51477800-51487800	Weak transcription	Liver	Liver
12	chr12:51477800-51487800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:51477800-51487800	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:51477800-51487800	Weak transcription	Left Ventricle	heart
15	chr12:51477800-51487800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:51477800-51487800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:51477800-51487800	Weak transcription	Hela-S3	cervix
18	chr12:51477800-51487800	Weak transcription	NH-A	brain
19	chr12:51477800-51487800	Weak transcription	NHDF-Ad	bronchial
20	chr12:51477800-51488000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:51477800-51488000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:51477800-51488000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:51477800-51488000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:51477800-51488000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr12:51477800-51488000	Weak transcription	Brain Angular Gyrus	brain
26	chr12:51477800-51488000	Weak transcription	Fetal Heart	heart
27	chr12:51477800-51488000	Weak transcription	Fetal Kidney	kidney
28	chr12:51477800-51488000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr12:51477800-51488000	Weak transcription	Thymus	Thymus
30	chr12:51477800-51488000	Weak transcription	HUVEC	blood vessel
31	chr12:51477800-51488000	Weak transcription	NHEK	skin
32	chr12:51477800-51488200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:51477800-51488200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:51477800-51488200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:51477800-51488200	Weak transcription	Ovary	ovary
36	chr12:51477800-51488200	Weak transcription	Right Ventricle	heart
37	chr12:51477800-51488400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr12:51477800-51488600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:51477800-51488800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:51477800-51490000	Weak transcription	Aorta	Aorta
41	chr12:51477800-51492600	Weak transcription	Esophagus	oesophagus
42	chr12:51477800-51499600	Weak transcription	NHLF	lung
43	chr12:51477800-51518400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:51477800-51518400	Weak transcription	Pancreas	Pancrea
45	chr12:51477800-51550200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:51478000-51487600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:51478000-51487600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr12:51478000-51487600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr12:51478000-51487600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr12:51478000-51487600	Weak transcription	Dnd41	blood

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